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Article

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Scientific reports - 28 Sept 2022

Nepomuceno Thales C, Dos Santos Ana P P, Fernandes Vanessa C, Elias Anna B R, Gomes Thiago T, Suarez-Kurtz Guilherme, Iversen Edwin S, Couch Fergus J, Monteiro Alvaro N A, Carvalho Marcelo A

Abstract excerpt

BRCA1 (Breast Cancer 1, early onset) is linked to breast and ovarian cancer predisposition. Still, the risks conferred by a significant portion of BRCA1 variants identified in the population remains unknown. Most of these variants of uncertain significance are missense alterations. However, the functional implications of small in-frame deletions and/or insertions (indels) are also difficult to predict. Our group...

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Identifiers

PMID: 36171434
DOI: 10.1038/s41598-022-20500-4
PMCID: PMC9519549

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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